ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2927-4C>T

dbSNP: rs1033915282
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597227 SCV000704964 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003758872 SCV004491542 likely benign Zellweger spectrum disorders 2023-06-25 criteria provided, single submitter clinical testing

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